rs72555393

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(G;G)	0	common in clinvar

Make rs72555393(C;T)

Make rs72555393(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

33072544

Gene

GLB1

is a	snp
is	mentioned by
dbSNP	rs72555393
dbSNP (classic)	rs72555393
ClinGen	rs72555393
ebi	rs72555393
HLI	rs72555393
Exac	rs72555393
Gnomad	rs72555393
Varsome	rs72555393
LitVar	rs72555393
Map	rs72555393
PheGenI	rs72555393
Biobank	rs72555393
1000 genomes	rs72555393
hgdp	rs72555393
ensembl	rs72555393
geneview	rs72555393
scholar	rs72555393
google	rs72555393
pharmgkb	rs72555393
gwascentral	rs72555393
openSNP	rs72555393
23andMe	rs72555393
SNPshot	rs72555393
SNPdbe	rs72555393
MSV3d	rs72555393
GWAS Ctlg	rs72555393

Merged from

Rs118203930

Max Magnitude

0

ClinVar
Risk	rs72555393(T;T)
Alt	rs72555393(T;T)
Reference	Rs72555393(C;C)
Significance	Pathogenic
Disease	Gangliosidosis GM1 type 3 Infantile GM1 gangliosidosis
Variation	info
Gene	TMPPE GLB1
CLNDBN	Gangliosidosis GM1 type 3 Infantile GM1 gangliosidosis
Reversed	1
HGVS	NC_000003.11:g.33114036G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000984.2, RCV000196532.1,

[PMID 8198123] Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.